Infantile Alexander disease with late onset infantile spasms and hypsarrhythmia

J. Paprocka, B. Rzepka-Migut, N. Rzepka, A. Jezela-Stanek, E. Morava

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1 Scopus citations


Alexander disease (AxD) is a rare autosomal dominant leukodystrophy with three clinical subtypes: infantile, juvenile and adult. Forms differ by age of symptoms occurrence and the clinical presentation. Although recent data suggest considering only two subtypes: type I (infantile onset with lesions extending to the cerebral hemispheres); type II (adult onset with primary involvement of subtentorial structures). Dominant mutations in the glial fibrillary acidic protein (GFAP) gene in AxD cause dysfunction of astrocytes (a type III intermediate filament). The authors discuss the clinical picture of a boy with infantile form of AxD confirmed by the presence of de novo heterozygous mutation c.236G>A in the GFAP gene and without striking symptoms such as macrocephaly and with exceptional late-onset epileptic spasms with hypsarrhyth-mia on electroencephalogram (EEG).

Original languageEnglish (US)
Pages (from-to)77-82
Number of pages6
JournalBalkan Journal of Medical Genetics
Issue number2
StatePublished - Dec 21 2019


  • Alexander disease (AxD)
  • Children
  • Macrocephaly

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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